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Inventi Impact - Cardiology & Haematology
(Formerly Inventi Rapid/Impact: Blood)

Articles

  • Inventi:hbl/97/14
    AN ADULT PATIENT WITH NIJMEGEN BREAKAGE SYNDROME AND HODGKIN'S LYMPHOMA
    Katharina Engel, Martina Rudelius, Felix G Meinel, Christian Peschel, Ulrich Keller

    Background: Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive DNA repair disorder characterized by immune deficiency, microcephaly, mental retardation and a disposition for the development of hematological malignancies. So far, mostly pediatric patients have been described, since the underlying condition is often fatal before adulthood. Many patients diagnosed with Hodgkin lymphoma (HL) due to this DNA repair defect receive reduced treatment followed by early progression and fatal outcome. Case presentation: We describe here a 26-year old male caucasian patient with NBS who presented with multi organ failure due to HL. Immediate intensive chemotherapy lead to complete remission and reversed organ failure. Conclusion: We show that application of standard chemotherapy can lead to long-term disease free survival in patients with a DNA repair disorder. Furthermore, we describe here, to the best of our knowledge, the first adult patient with NBS and HL.

    How to Cite this Article
    CC Compliant Citation: Engel et al.: An adult patient with Nijmegen Breakage Syndrome and Hodgkin's Lymphoma. BMC Hematology 2014 14:2, doi:10.1186/2052-1839-14-2. © 2014 Engel et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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